Mutagenetix > Incidental Mutation

Incidental Mutation 'R4646:Pnpla2'

350244

Institutional Source

Beutler Lab

Gene Symbol

Pnpla2

Ensembl Gene

ENSMUSG00000025509

Gene Name

patatin-like phospholipase domain containing 2

Synonyms

0610039C21Rik, desnutrin, 1110001C14Rik, Atgl

MMRRC Submission

041907-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.495) question?

Stock #

R4646 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141035111-141040656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141038574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 276 (E276G)

Ref Sequence

ENSEMBL: ENSMUSP00000127149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026583] [ENSMUST00000053670] [ENSMUST00000064151] [ENSMUST00000164016] [ENSMUST00000164924] [ENSMUST00000169665] [ENSMUST00000167491] [ENSMUST00000165487] [ENSMUST00000172215] [ENSMUST00000170879] [ENSMUST00000165194]

AlphaFold

Q8BJ56

Predicted Effect

probably benign
Transcript: ENSMUST00000026583

SMART Domains

Protein: ENSMUSP00000026583
Gene: ENSMUSG00000025509

Domain	Start	End	E-Value	Type
Pfam:Patatin	10	69	4.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053670

SMART Domains

Protein: ENSMUSP00000055899
Gene: ENSMUSG00000048200

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
EFh	32	60	2.71e0	SMART
EFh	66	94	2.63e0	SMART
low complexity region	108	126	N/A	INTRINSIC
coiled coil region	167	312	N/A	INTRINSIC
low complexity region	324	346	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000064151

SMART Domains

Protein: ENSMUSP00000065116
Gene: ENSMUSG00000025509

Domain	Start	End	E-Value	Type
Pfam:Patatin	10	179	1.8e-15	PFAM
low complexity region	409	425	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163674

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164016
AA Change: E276G

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127149
Gene: ENSMUSG00000025509
AA Change: E276G

Domain	Start	End	E-Value	Type
Pfam:Patatin	10	179	3.3e-15	PFAM
low complexity region	243	287	N/A	INTRINSIC
low complexity region	465	481	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164924

SMART Domains

Protein: ENSMUSP00000129632
Gene: ENSMUSG00000025509

Domain	Start	End	E-Value	Type
Pfam:Patatin	10	69	4.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169665
AA Change: E242G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000127983
Gene: ENSMUSG00000025509
AA Change: E242G

Domain	Start	End	E-Value	Type
Pfam:Patatin	10	249	3.4e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211564

Predicted Effect

probably benign
Transcript: ENSMUST00000167491

SMART Domains

Protein: ENSMUSP00000127957
Gene: ENSMUSG00000048200

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
EFh	32	60	2.71e0	SMART
EFh	66	94	2.63e0	SMART
low complexity region	108	126	N/A	INTRINSIC
coiled coil region	167	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169723

Predicted Effect

probably benign
Transcript: ENSMUST00000172215

SMART Domains

Protein: ENSMUSP00000132793
Gene: ENSMUSG00000048200

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
EFh	32	60	2.71e0	SMART
EFh	66	94	2.63e0	SMART
low complexity region	108	126	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170879

SMART Domains

Protein: ENSMUSP00000129946
Gene: ENSMUSG00000048200

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
EFh	32	60	2.71e0	SMART
EFh	66	94	2.63e0	SMART
low complexity region	108	126	N/A	INTRINSIC
coiled coil region	167	219	N/A	INTRINSIC
low complexity region	236	249	N/A	INTRINSIC
low complexity region	275	287	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165194

Coding Region Coverage

1x: 99.0%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for this targeted mutation have defects in lipolysis and altered energy metabolism. Triglyceride accumulation in cardiac muscle leads to severe cardiac dysfunction and mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 101,904,515 (GRCm39)	N132K	possibly damaging	Het
2010315B03Rik	T	A	9: 124,056,228 (GRCm39)	Y232F	probably benign	Het
Acadl	A	T	1: 66,870,602 (GRCm39)	S428R	probably benign	Het
Adamts10	A	G	17: 33,764,529 (GRCm39)	D683G	probably damaging	Het
Angptl4	G	A	17: 34,000,273 (GRCm39)	P32S	probably benign	Het
Apob	A	G	12: 8,062,759 (GRCm39)	N134S	probably benign	Het
Atr	G	A	9: 95,753,250 (GRCm39)		probably null	Het
B4galnt1	G	A	10: 127,003,705 (GRCm39)	V223M	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
C1galt1c1	A	T	X: 37,720,349 (GRCm39)	S216T	probably benign	Het
C2cd3	A	C	7: 100,021,657 (GRCm39)		probably benign	Het
Clca4b	A	C	3: 144,634,286 (GRCm39)	H102Q	probably benign	Het
Cntrl	T	C	2: 35,039,473 (GRCm39)	I557T	probably damaging	Het
Col26a1	G	A	5: 136,876,404 (GRCm39)	S72F	probably damaging	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Csmd1	T	C	8: 15,982,511 (GRCm39)	I2719V	possibly damaging	Het
Cul9	C	T	17: 46,849,943 (GRCm39)	W502*	probably null	Het
Dazl	A	T	17: 50,595,183 (GRCm39)	F84I	probably damaging	Het
Dcaf1	G	T	9: 106,724,006 (GRCm39)	R478L	probably benign	Het
Dock5	T	G	14: 68,080,228 (GRCm39)	I198L	probably benign	Het
Dock9	A	T	14: 121,823,658 (GRCm39)	L1428H	probably damaging	Het
Dync1li1	T	A	9: 114,538,237 (GRCm39)	V198E	probably damaging	Het
Egf	A	T	3: 129,513,925 (GRCm39)	C429S	probably damaging	Het
Ehmt1	T	C	2: 24,781,696 (GRCm39)	E7G	probably null	Het
Ercc4	G	T	16: 12,965,438 (GRCm39)	R690L	probably damaging	Het
Erich5	T	C	15: 34,471,112 (GRCm39)	C114R	possibly damaging	Het
Etv1	T	C	12: 38,915,685 (GRCm39)	S428P	possibly damaging	Het
Fbxo31	G	T	8: 122,286,755 (GRCm39)	F174L	probably benign	Het
Fbxo33	T	A	12: 59,251,217 (GRCm39)	I433L	probably benign	Het
Fez2	A	T	17: 78,720,357 (GRCm39)	V99E	probably damaging	Het
Gabarapl2	A	C	8: 112,669,185 (GRCm39)	K48Q	probably damaging	Het
Gfi1b	T	A	2: 28,500,149 (GRCm39)	H294L	probably damaging	Het
Gk2	A	G	5: 97,604,056 (GRCm39)	S261P	probably damaging	Het
Gpr158	T	C	2: 21,831,864 (GRCm39)	I988T	probably benign	Het
Grk3	G	C	5: 113,077,586 (GRCm39)	H394D	probably benign	Het
Grm6	A	G	11: 50,748,033 (GRCm39)	E381G	probably benign	Het
Gtf3c1	A	T	7: 125,258,266 (GRCm39)	M1268K	possibly damaging	Het
Hikeshi	A	T	7: 89,572,854 (GRCm39)	I113N	probably damaging	Het
Hmg20b	T	A	10: 81,184,416 (GRCm39)	Q129L	probably damaging	Het
Hunk	C	A	16: 90,272,791 (GRCm39)	T365K	probably damaging	Het
Ints15	A	T	5: 143,293,740 (GRCm39)	W246R	probably damaging	Het
Kdm5a	T	G	6: 120,351,938 (GRCm39)	V176G	possibly damaging	Het
Kif2a	T	A	13: 107,098,693 (GRCm39)	E691V	probably damaging	Het
Ly6e	T	C	15: 74,830,510 (GRCm39)		probably null	Het
Map1b	G	T	13: 99,568,977 (GRCm39)	P1248Q	unknown	Het
Mettl25	A	G	10: 105,662,416 (GRCm39)	S185P	probably damaging	Het
Mfap3l	T	A	8: 61,124,184 (GRCm39)	V142D	probably damaging	Het
Mip	T	A	10: 128,062,922 (GRCm39)	H122Q	probably benign	Het
Mkx	G	A	18: 6,992,040 (GRCm39)	T280I	probably benign	Het
Msi1	A	T	5: 115,589,514 (GRCm39)		probably null	Het
Mtcl2	T	C	2: 156,862,426 (GRCm39)	E1501G	probably damaging	Het
Muc5b	A	G	7: 141,416,377 (GRCm39)	M3108V	probably benign	Het
Mybl1	A	G	1: 9,742,511 (GRCm39)	S625P	probably damaging	Het
Myo7b	C	A	18: 32,127,422 (GRCm39)	V627F	probably benign	Het
Ndst3	A	T	3: 123,465,684 (GRCm39)	I96N	probably damaging	Het
Nrp1	A	T	8: 129,184,425 (GRCm39)	T357S	probably benign	Het
Obscn	G	T	11: 59,015,396 (GRCm39)	Y1050*	probably null	Het
Or2ak7	A	G	11: 58,575,556 (GRCm39)	N286D	probably damaging	Het
Or2d4	A	T	7: 106,543,547 (GRCm39)	N220K	probably benign	Het
Or2y1c	A	C	11: 49,361,451 (GRCm39)	I158L	probably benign	Het
Or4c107	T	A	2: 88,789,556 (GRCm39)	F249I	probably damaging	Het
Or5d47	A	T	2: 87,804,142 (GRCm39)	I289K	probably benign	Het
Or5i1	T	C	2: 87,613,565 (GRCm39)	V227A	possibly damaging	Het
Otof	T	C	5: 30,540,914 (GRCm39)	E875G	possibly damaging	Het
Pick1	A	T	15: 79,133,137 (GRCm39)	D399V	probably benign	Het
Pik3c2g	T	A	6: 139,665,744 (GRCm39)	S22T	probably benign	Het
Pomk	A	T	8: 26,473,633 (GRCm39)	S107T	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Rimbp3	A	G	16: 17,030,962 (GRCm39)	D1462G	probably damaging	Het
Rnf112	T	A	11: 61,342,936 (GRCm39)	E230V	probably damaging	Het
Rock1	T	C	18: 10,112,391 (GRCm39)	T455A	probably benign	Het
Rtp4	A	T	16: 23,428,790 (GRCm39)	M18L	probably benign	Het
Scaf11	A	T	15: 96,317,981 (GRCm39)		probably null	Het
Schip1	T	C	3: 67,972,297 (GRCm39)	V8A	probably benign	Het
Sec31b	T	C	19: 44,515,060 (GRCm39)	H351R	probably benign	Het
Sh3bp5l	A	G	11: 58,237,177 (GRCm39)	D378G	probably benign	Het
Sowahb	T	C	5: 93,190,715 (GRCm39)	D668G	probably damaging	Het
Spam1	A	G	6: 24,800,586 (GRCm39)	T442A	probably benign	Het
Syt14	T	A	1: 192,615,633 (GRCm39)	Y451F	probably damaging	Het
Tafa5	T	G	15: 87,604,783 (GRCm39)	S115A	probably damaging	Het
Tdh	A	G	14: 63,731,205 (GRCm39)	L323P	possibly damaging	Het
Tet2	A	T	3: 133,193,843 (GRCm39)	M197K	probably benign	Het
Thbs1	G	A	2: 117,948,810 (GRCm39)	A489T	probably benign	Het
Tnfaip1	C	T	11: 78,420,008 (GRCm39)	R88Q	probably damaging	Het
Tnn	T	C	1: 159,973,612 (GRCm39)	M252V	probably benign	Het
Trdn	G	T	10: 33,071,977 (GRCm39)	E215*	probably null	Het
Trim55	T	C	3: 19,725,286 (GRCm39)	F268L	probably benign	Het
Trmt112	T	A	19: 6,887,816 (GRCm39)	V55E	possibly damaging	Het
Tube1	A	G	10: 39,018,363 (GRCm39)	M147V	possibly damaging	Het
Ubn1	A	G	16: 4,895,851 (GRCm39)	T966A	probably damaging	Het
Unc80	A	G	1: 66,708,394 (GRCm39)	I2651V	probably benign	Het
Vmn1r172	G	A	7: 23,359,919 (GRCm39)	R268H	probably benign	Het
Vmn1r231	T	A	17: 21,110,571 (GRCm39)	I115F	probably damaging	Het
Vmn1r237	A	G	17: 21,534,400 (GRCm39)	K41R	probably benign	Het
Vmn2r58	A	T	7: 41,509,935 (GRCm39)	N547K	probably damaging	Het
Vmn2r74	T	C	7: 85,606,782 (GRCm39)	D188G	probably benign	Het
Vwa5b2	A	G	16: 20,415,079 (GRCm39)	K367R	probably damaging	Het
Washc4	T	A	10: 83,410,407 (GRCm39)	M665K	possibly damaging	Het
Wbp11	T	A	6: 136,798,189 (GRCm39)	Y236F	probably benign	Het
Wbp4	T	A	14: 79,709,801 (GRCm39)	I145F	possibly damaging	Het
Wwc2	C	A	8: 48,373,636 (GRCm39)	D77Y	probably damaging	Het
Zpld2	G	A	4: 133,929,459 (GRCm39)	A282V	probably benign	Het

Other mutations in Pnpla2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02267:Pnpla2	APN	7	141,038,122 (GRCm39)	missense	probably damaging	1.00
IGL02622:Pnpla2	APN	7	141,035,285 (GRCm39)	missense	probably damaging	1.00
R0334:Pnpla2	UTSW	7	141,039,433 (GRCm39)	splice site	probably null
R1145:Pnpla2	UTSW	7	141,035,329 (GRCm39)	missense	probably damaging	1.00
R1145:Pnpla2	UTSW	7	141,035,329 (GRCm39)	missense	probably damaging	1.00
R1171:Pnpla2	UTSW	7	141,038,794 (GRCm39)	missense	probably benign	0.05
R1435:Pnpla2	UTSW	7	141,037,324 (GRCm39)	missense	probably benign	0.00
R1774:Pnpla2	UTSW	7	141,039,481 (GRCm39)	missense	probably damaging	0.96
R1866:Pnpla2	UTSW	7	141,035,329 (GRCm39)	missense	probably damaging	1.00
R1967:Pnpla2	UTSW	7	141,039,345 (GRCm39)	missense	probably benign	0.21
R2153:Pnpla2	UTSW	7	141,039,132 (GRCm39)	missense	probably damaging	1.00
R2443:Pnpla2	UTSW	7	141,037,982 (GRCm39)	missense	possibly damaging	0.73
R2923:Pnpla2	UTSW	7	141,035,380 (GRCm39)	missense	probably benign	0.15
R2964:Pnpla2	UTSW	7	141,038,391 (GRCm39)	missense	probably damaging	1.00
R2966:Pnpla2	UTSW	7	141,038,391 (GRCm39)	missense	probably damaging	1.00
R4576:Pnpla2	UTSW	7	141,037,257 (GRCm39)	missense	probably damaging	1.00
R4577:Pnpla2	UTSW	7	141,037,257 (GRCm39)	missense	probably damaging	1.00
R4677:Pnpla2	UTSW	7	141,038,356 (GRCm39)	missense	probably damaging	1.00
R4934:Pnpla2	UTSW	7	141,038,085 (GRCm39)	missense	probably damaging	1.00
R5011:Pnpla2	UTSW	7	141,039,204 (GRCm39)	critical splice donor site	probably null
R5334:Pnpla2	UTSW	7	141,039,406 (GRCm39)	missense	probably damaging	0.97
R6331:Pnpla2	UTSW	7	141,039,198 (GRCm39)	missense	probably damaging	0.99
R7361:Pnpla2	UTSW	7	141,037,344 (GRCm39)	missense	possibly damaging	0.77
R7959:Pnpla2	UTSW	7	141,037,406 (GRCm39)	missense	probably benign	0.00
R8066:Pnpla2	UTSW	7	141,039,581 (GRCm39)	makesense	probably null
R8354:Pnpla2	UTSW	7	141,038,011 (GRCm39)	missense	probably damaging	1.00
R8454:Pnpla2	UTSW	7	141,038,011 (GRCm39)	missense	probably damaging	1.00
R9267:Pnpla2	UTSW	7	141,036,503 (GRCm39)	intron	probably benign
R9342:Pnpla2	UTSW	7	141,035,331 (GRCm39)	nonsense	probably null
X0020:Pnpla2	UTSW	7	141,039,573 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CAGGGCTACAGAGATGGACTTC -3'
(R):5'- TTTGGTTCCACACAGGCCTC -3'

Sequencing Primer
(F):5'- GCTACAGAGATGGACTTCGATTCC -3'
(R):5'- ACACAGGCCTCCAGCAGG -3'

Posted On

2015-10-08